ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.990C>T (p.Phe330=)

dbSNP: rs2135835271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002207561 SCV002362518 likely benign Glycogen storage disease, type V 2022-04-01 criteria provided, single submitter clinical testing

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